#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89711920	89711926	+	Frame_Shift_Del	DEL	TACCTGT	TACCTGT	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	TACCTGT	TACCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711920_89711926delTACCTGT	ENST00000371953.3	+	6	1895_1901	c.538_544delTACCTGT	c.(538-546)tacctgttafs	p.YLL180fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	180	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.S179fs*3(1)|p.G165_*404del(1)|p.Y180*(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTATTATAGCTACCTGTTAAAGAATCA	0.377		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	58	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(13)|skin(9)|lung(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM043774|CM074469|HM971505	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.538_544delTACCTGT	10.37:g.89711920_89711926delTACCTGT	ENSP00000361021:p.Tyr180fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.377	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SPAG17	200162	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	118596629	118596629	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:118596629A>T	ENST00000336338.5	-	20	2875	c.2810T>A	c.(2809-2811)cTc>cAc	p.L937H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	937						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		gaTTACCTTGAGAGAGCCTTC	0.353																																						.											0													57.0	59.0	58.0					1																	118596629		2200	4297	6497	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2810T>A	1.37:g.118596629A>T	ENSP00000337804:p.Leu937His		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134317	0.77662	.	.	ENSG00000155761	ENST00000336338	T	0.49139	0.79	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.68952	2.095	0.33234	D	0.556326	D	0.89917	1.0	D	0.91635	0.999	T	0.64922	-0.6293	10	0.72032	D	0.01	.	12.1892	0.54261	1.0:0.0:0.0:0.0	.	937	Q6Q759	SPG17_HUMAN	H	937	ENSP00000337804:L937H	ENSP00000337804:L937H	L	-	2	0	SPAG17	118398152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.007000	0.57093	2.371000	0.80710	0.533000	0.62120	CTC		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
CFHR3	10878	hgsc.bcm.edu	37	1	196744041	196744041	+	Silent	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:196744041C>T	ENST00000367425.4	+	1	117	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	CFHR3_ENST00000471440.2_Silent_p.L9L|CFHR3_ENST00000391985.3_Silent_p.L9L	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	9						blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CAATGTCATTCTGACCTTGTG	0.338																																						.											0													125.0	135.0	132.0					1																	196744041		1920	4138	6058	SO:0001819	synonymous_variant	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.25C>T	1.37:g.196744041C>T			B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																				0.338	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023	
COMMD6	170622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	13	76111919	76111919	+	Missense_Mutation	SNP	G	G	A	rs143172831		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:76111919G>A	ENST00000377615.3	-	2	187	c.23C>T	c.(22-24)cCg>cTg	p.P8L	COMMD6_ENST00000406936.3_Missense_Mutation_p.P8L|COMMD6_ENST00000377619.5_5'Flank|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000355801.4_Missense_Mutation_p.P8L			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	8					negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		AGCATCCAGCGGCGGCTCGCT	0.607																																						.											0													93.0	92.0	92.0					13																	76111919		2203	4300	6503	SO:0001583	missense	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.23C>T	13.37:g.76111919G>A	ENSP00000366841:p.Pro8Leu		A6NF28|B7ZLN0|Q5TBK4	Missense_Mutation	SNP	ENST00000377615.3	37	CCDS9451.1	.	.	.	.	.	.	.	.	.	.	G	2.380	-0.342358	0.05243	.	.	ENSG00000188243	ENST00000406936;ENST00000377615;ENST00000355801	T;T;T	0.44482	0.95;0.95;0.92	4.65	-9.3	0.00649	.	1.794200	0.03225	N	0.178138	T	0.18173	0.0436	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.14144	-1.0483	9	0.17832	T	0.49	.	2.2716	0.04092	0.1391:0.3574:0.1364:0.3671	.	8;8	Q7Z4G1;Q7Z4G1-2	COMD6_HUMAN;.	L	8	ENSP00000385660:P8L;ENSP00000366841:P8L;ENSP00000348054:P8L	ENSP00000348054:P8L	P	-	2	0	COMMD6	75009920	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-5.131000	0.00148	-3.141000	0.00233	-2.406000	0.00223	CCG		0.607	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045288.4	XM_085023	
NOP9	161424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	24773484	24773484	+	Splice_Site	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:24773484G>A	ENST00000267425.3	+	8	1740		c.e8+1		NOP9_ENST00000396802.3_Intron	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein								poly(A) RNA binding (GO:0044822)										GAACCTAAAGGTTAGATTTCT	0.517																																						.											0													58.0	54.0	55.0					14																	24773484		2203	4300	6503	SO:0001630	splice_region_variant	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1647+1G>A	14.37:g.24773484G>A			A8MY76|Q8IVF0|Q8TBS6	Splice_Site	SNP	ENST00000267425.3	37	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821463	0.71028	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1971	0.89826	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C14orf21	23843324	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.521000	0.67086	2.832000	0.97577	0.655000	0.94253	.		0.517	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		Intron
AGBL4	84871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	49100247	49100247	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:49100247C>T	ENST00000371839.1	-	9	985	c.869G>A	c.(868-870)cGt>cAt	p.R290H	AGBL4_ENST00000334103.7_Missense_Mutation_p.R23H|AGBL4_ENST00000371838.1_Missense_Mutation_p.R290H	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CAGCCAGTGACGATTCAGATC	0.468																																						.											0													85.0	87.0	86.0					1																	49100247		1975	4155	6130	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.869G>A	1.37:g.49100247C>T	ENSP00000360905:p.Arg290His		B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.194569|5.194569	0.94960|0.94960	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838|ENST00000416121	T;T;T|.	0.24151|.	1.87;1.87;1.87|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase M14, carboxypeptidase A (1);|.	0.193068|.	0.56097|.	D|.	0.000029|.	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.978;0.953;0.988;0.998;0.999|.	D|D	0.89102|0.89102	0.3490|0.3490	9|5	.|.	.|.	.|.	-18.2076|-18.2076	17.0797|17.0797	0.86595|0.86595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105;302;23;135;290|.	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57|.	.;.;.;.;CBPC6_HUMAN|.	H|I	290;284;23;290|136	ENSP00000360905:R290H;ENSP00000335516:R23H;ENSP00000360904:R290H|.	.|.	R|V	-|-	2|1	0|0	AGBL4|AGBL4	48872834|48872834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	6.832000|6.832000	0.75329|0.75329	2.636000|2.636000	0.89361|0.89361	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.468	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	
LEPREL4	10609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	39963092	39963092	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39963092C>G	ENST00000355468.3	-	7	1568	c.1102G>C	c.(1102-1104)Gag>Cag	p.E368Q	LEPREL4_ENST00000393928.1_Missense_Mutation_p.E368Q			Q92791	SC65_HUMAN	leprecan-like 4	368	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCAGCAGCTCCCGCAGCTCG	0.592																																						.											0													62.0	52.0	56.0					17																	39963092		2203	4300	6503	SO:0001583	missense	10609			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1102G>C	17.37:g.39963092C>G	ENSP00000347649:p.Glu368Gln		Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867921	0.72065	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.39787	1.06;1.06	5.36	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.55017	1.72	0.46701	D	0.999167	P;B	0.41450	0.75;0.312	B;B	0.43809	0.432;0.103	T	0.39014	-0.9634	10	0.42905	T	0.14	-23.401	14.5908	0.68362	0.0:0.8527:0.1473:0.0	.	357;368	B4DVZ5;Q92791	.;SC65_HUMAN	Q	368;368;357	ENSP00000347649:E368Q;ENSP00000377505:E368Q	ENSP00000347649:E368Q	E	-	1	0	LEPREL4	37216618	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.102000	0.31050	1.218000	0.43458	0.609000	0.83330	GAG		0.592	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2		
MAG	4099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	35800935	35800935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:35800935G>T	ENST00000392213.3	+	8	1549	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Nonsense_Mutation_p.E439*|MAG_ENST00000361922.4_Nonsense_Mutation_p.E464*	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	464	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTGTACTCGGAGCGCAGCGG	0.677																																						.											0													66.0	59.0	61.0					19																	35800935		2203	4300	6503	SO:0001587	stop_gained	4099			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1390G>T	19.37:g.35800935G>T	ENSP00000376048:p.Glu464*		B7Z2E5|F5GYC0|Q567S4	Nonsense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	38	7.158199	0.98103	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	.	.	.	4.8	4.8	0.61643	.	0.111838	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.1222	0.48298	0.0:0.1867:0.8133:0.0	.	.	.	.	X	501;464;464;439	.	ENSP00000262624:E501X	E	+	1	0	MAG	40492775	0.973000	0.33851	0.993000	0.49108	0.982000	0.71751	1.922000	0.40045	2.497000	0.84241	0.462000	0.41574	GAG		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600	
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	21	41514495	41514495	+	Silent	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr21:41514495G>A	ENST00000400454.1	-	18	3873	c.3396C>T	c.(3394-3396)ctC>ctT	p.L1132L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1132	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L1132L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCGTCCATGAGGTTGGCCC	0.478																																					Melanoma(134;970 1778 1785 21664 32388)	.											1	Substitution - coding silent(1)	lung(1)											113.0	106.0	108.0					21																	41514495		1881	4103	5984	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3396C>T	21.37:g.41514495G>A			O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.478	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
TLK1	9874	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	2	171871451	171871451	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:171871451G>T	ENST00000431350.2	-	13	1648	c.1244C>A	c.(1243-1245)gCa>gAa	p.A415E	TLK1_ENST00000521943.1_Missense_Mutation_p.A367E|TLK1_ENST00000360843.3_Missense_Mutation_p.A436E|TLK1_ENST00000442919.2_Missense_Mutation_p.A367E|TLK1_ENST00000434911.2_Missense_Mutation_p.A319E			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	415					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTGGATTTCTGCCTCTTCCTG	0.348																																						.											0													102.0	104.0	103.0					2																	171871451		2203	4300	6503	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1244C>A	2.37:g.171871451G>T	ENSP00000411099:p.Ala415Glu		B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141316	0.57044	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.64438	-0.09;-0.1;-0.1;-0.09;-0.09	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	L	0.39514	1.22	0.80722	D	1	B;B;D	0.76494	0.114;0.389;0.999	B;B;D	0.69479	0.059;0.202;0.964	T	0.70597	-0.4828	10	0.40728	T	0.16	.	19.6128	0.95616	0.0:0.0:1.0:0.0	.	319;436;415	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	E	367;415;436;367;319	ENSP00000402165:A367E;ENSP00000411099:A415E;ENSP00000354089:A436E;ENSP00000428113:A367E;ENSP00000409222:A319E	ENSP00000354089:A436E	A	-	2	0	TLK1	171579697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.635000	0.89317	0.655000	0.94253	GCA		0.348	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	
GAB4	128954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	17443634	17443634	+	Missense_Mutation	SNP	C	C	T	rs373667129		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:17443634C>T	ENST00000400588.1	-	10	1821	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	572										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CACAGCTTGGCGCCCCTGGGA	0.597																																						.											0								C	THR/ALA	0,4378		0,0,2189	43.0	49.0	47.0		1714	1.4	0.3	22		47	1,8591	1.2+/-3.3	0,1,4295	no	missense	GAB4	NM_001037814.1	58	0,1,6484	TT,TC,CC		0.0116,0.0,0.0077	benign	572/575	17443634	1,12969	2189	4296	6485	SO:0001583	missense	128954			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1714G>A	22.37:g.17443634C>T	ENSP00000383431:p.Ala572Thr			Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478810	0.44044	0.0	1.16E-4	ENSG00000215568	ENST00000400588	T	0.24908	1.83	2.46	1.38	0.22167	.	0.295957	0.37715	N	0.001974	T	0.10337	0.0253	N	0.16903	0.455	0.22354	N	0.999175	B	0.30709	0.291	B	0.15484	0.013	T	0.14392	-1.0474	10	0.38643	T	0.18	.	2.9911	0.05983	0.2728:0.5738:0.0:0.1533	.	572	Q2WGN9	GAB4_HUMAN	T	572	ENSP00000383431:A572T	ENSP00000383431:A572T	A	-	1	0	GAB4	15823634	0.341000	0.24801	0.270000	0.24601	0.000000	0.00434	0.794000	0.26958	0.552000	0.29026	-0.399000	0.06403	GCC		0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	
IGFBP5	3488	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	217559222	217559222	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:217559222G>T	ENST00000233813.4	-	1	1026	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC007563.5_ENST00000447289.1_RNA	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	93	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTGCAGCAGGGCGTGCAGC	0.701																																						.											0													7.0	7.0	7.0					2																	217559222		1863	3711	5574	SO:0001583	missense	3488				CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.277C>A	2.37:g.217559222G>T	ENSP00000233813:p.Leu93Met		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261739	0.59431	.	.	ENSG00000115461	ENST00000233813;ENST00000449583	T;T	0.67171	0.12;-0.25	4.69	3.79	0.43588	Insulin-like growth factor-binding protein, IGFBP (2);Growth factor, receptor (1);	0.706652	0.14107	N	0.340990	T	0.65801	0.2726	M	0.82823	2.61	0.52501	D	0.999958	P	0.34615	0.459	B	0.22601	0.04	T	0.67891	-0.5553	10	0.72032	D	0.01	-26.447	11.8083	0.52169	0.0:0.0:0.8229:0.1771	.	93	P24593	IBP5_HUMAN	M	93	ENSP00000233813:L93M;ENSP00000413474:L93M	ENSP00000233813:L93M	L	-	1	2	IGFBP5	217267467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.445000	0.66594	0.931000	0.37242	0.555000	0.69702	CTG		0.701	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599	
TTLL4	9654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	219610500	219610500	+	Missense_Mutation	SNP	C	C	T	rs370491335		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:219610500C>T	ENST00000392102.1	+	7	2213	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TTLL4_ENST00000442769.1_Missense_Mutation_p.R625W|TTLL4_ENST00000258398.4_Missense_Mutation_p.R625W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R460W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	625	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GACCATTGGACGGTCCCACTT	0.502																																					GBM(172;1818 2053 15407 20943 49753)	.											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	61.0	63.0		1873	4.6	1.0	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTLL4	NM_014640.4	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	625/1200	219610500	2,13004	2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1873C>T	2.37:g.219610500C>T	ENSP00000375951:p.Arg625Trp		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153584	0.57259	2.27E-4	1.16E-4	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.05513	3.68;3.93;3.43;3.93	5.5	4.62	0.57501	.	0.249544	0.27402	N	0.019536	T	0.19287	0.0463	L	0.50333	1.59	0.51482	D	0.999928	D;D;P	0.89917	0.983;1.0;0.956	P;D;B	0.97110	0.492;1.0;0.256	T	0.00316	-1.1823	10	0.66056	D	0.02	.	13.2787	0.60202	0.3031:0.6969:0.0:0.0	.	460;625;625	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	W	460;625;625;625	ENSP00000393332:R460W;ENSP00000375951:R625W;ENSP00000396555:R625W;ENSP00000258398:R625W	ENSP00000258398:R625W	R	+	1	2	TTLL4	219318744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.280000	0.43443	1.294000	0.44707	0.655000	0.94253	CGG		0.502	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640	
CSF2RB	1439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	22	37333576	37333576	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:37333576G>A	ENST00000403662.3	+	14	1948	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	CSF2RB_ENST00000536485.1_Missense_Mutation_p.A523T|CSF2RB_ENST00000262825.5_Missense_Mutation_p.A582T|CSF2RB_ENST00000406230.1_Missense_Mutation_p.A582T			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	576					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCGCCTGCCGCCTCCCACAC	0.652																																						.											0													20.0	23.0	22.0					22																	37333576		2202	4298	6500	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1726G>A	22.37:g.37333576G>A	ENSP00000384053:p.Ala576Thr		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	2.785	-0.252666	0.05829	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.91180	-2.29;-2.8;-2.8;-2.8	5.36	-0.629	0.11533	.	1.749050	0.03156	N	0.168694	T	0.80934	0.4719	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.06405	0.002;0.001	T	0.65833	-0.6072	10	0.09843	T	0.71	.	3.4684	0.07558	0.1302:0.492:0.227:0.1508	.	582;576	P32927-2;P32927	.;IL3RB_HUMAN	T	576;576;582;582;523	ENSP00000384053:A576T;ENSP00000262825:A582T;ENSP00000385271:A582T;ENSP00000440003:A523T	ENSP00000262825:A582T	A	+	1	0	CSF2RB	35663522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.521000	0.06245	-0.555000	0.06142	-2.506000	0.00189	GCC		0.652	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
ANK2	287	hgsc.bcm.edu;ucsc.edu	37	4	114276401	114276401	+	Silent	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:114276401G>A	ENST00000357077.4	+	38	6680	c.6627G>A	c.(6625-6627)ggG>ggA	p.G2209G	ANK2_ENST00000264366.6_Silent_p.G2176G|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2209					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAATGAGGGGGTAGCCGGCT	0.502																																						.											0													77.0	79.0	78.0					4																	114276401		2203	4300	6503	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6627G>A	4.37:g.114276401G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
RGS12	6002	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	3417849	3417849	+	Splice_Site	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:3417849G>A	ENST00000344733.5	+	7	3331		c.e7+1		RGS12_ENST00000508158.1_Splice_Site|RGS12_ENST00000336727.3_Splice_Site|RGS12_ENST00000306648.7_Splice_Site|RGS12_ENST00000382788.3_Splice_Site|RGS12_ENST00000338806.4_Splice_Site|RGS12_ENST00000538395.1_Splice_Site|RGS12_ENST00000543385.1_Splice_Site	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCTGCAGGTAACCGCAGG	0.617																																						.											0													47.0	43.0	44.0					4																	3417849		2203	4300	6503	SO:0001630	splice_region_variant	6002			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2427+1G>A	4.37:g.3417849G>A			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Splice_Site	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076244	0.76415	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1317	0.86728	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGS12	3387647	1.000000	0.71417	0.992000	0.48379	0.791000	0.44710	9.444000	0.97578	2.356000	0.79943	0.650000	0.86243	.		0.617	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	Intron
EXOC1	55763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	56737009	56737009	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:56737009C>T	ENST00000381295.2	+	6	1117	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	EXOC1_ENST00000346134.7_Missense_Mutation_p.H257Y|EXOC1_ENST00000349598.6_Missense_Mutation_p.H257Y	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	257					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGAAAGCAACCACCTAATTCA	0.343																																						.											0													97.0	101.0	100.0					4																	56737009		2203	4300	6503	SO:0001583	missense	55763			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.769C>T	4.37:g.56737009C>T	ENSP00000370695:p.His257Tyr		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	5.687	0.311354	0.10789	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.85	5.85	0.93711	.	0.146296	0.64402	D	0.000007	T	0.52354	0.1729	L	0.36672	1.1	0.43863	D	0.996465	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42865	-0.9426	9	0.23302	T	0.38	.	15.3266	0.74168	0.0:0.9314:0.0:0.0686	.	257;257	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Y	257	.	ENSP00000326514:H257Y	H	+	1	0	EXOC1	56431766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.760000	0.68793	2.768000	0.95171	0.655000	0.94253	CAC		0.343	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
DSPP	1834	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	88535754	88535754	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:88535754G>T	ENST00000282478.7	+	4	1973	c.1940G>T	c.(1939-1941)aGc>aTc	p.S647I	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S647I			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	647	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcaacagcagtgacagt	0.488																																						.											0													121.0	139.0	133.0					4																	88535754		1777	3262	5039	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1940G>T	4.37:g.88535754G>T	ENSP00000282478:p.Ser647Ile		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	6.014	0.371022	0.11409	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.89552	-2.53;-2.53	3.49	3.49	0.39957	.	.	.	.	.	D	0.90710	0.7085	L	0.43923	1.385	0.32597	N	0.526374	D	0.62365	0.991	P	0.62184	0.899	D	0.91798	0.5449	9	0.87932	D	0	.	12.8203	0.57690	0.0:0.0:1.0:0.0	.	647	Q9NZW4	DSPP_HUMAN	I	647	ENSP00000382213:S647I;ENSP00000282478:S647I	ENSP00000282478:S647I	S	+	2	0	DSPP	88754778	0.941000	0.31946	0.989000	0.46669	0.035000	0.12851	1.382000	0.34374	1.656000	0.50722	0.174000	0.16983	AGC		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	126389910	126389910	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:126389910T>C	ENST00000394329.3	+	11	12156	c.12143T>C	c.(12142-12144)cTc>cCc	p.L4048P	FAT4_ENST00000335110.5_Missense_Mutation_p.L2311P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4048	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACATATAAGCTCACCACCATG	0.408																																						.											0													98.0	98.0	98.0					4																	126389910		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12143T>C	4.37:g.126389910T>C	ENSP00000377862:p.Leu4048Pro		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155915	0.78114	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.81821	-1.54;-1.54	5.17	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.30830	U	0.008797	D	0.85062	0.5611	L	0.35854	1.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86800	0.1991	10	0.72032	D	0.01	.	15.0242	0.71656	0.0:0.0:0.0:1.0	.	2311;4048;4048	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	P	4048;2311	ENSP00000377862:L4048P;ENSP00000335169:L2311P	ENSP00000335169:L2311P	L	+	2	0	FAT4	126609360	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.538000	0.82048	1.947000	0.56498	0.477000	0.44152	CTC		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAM26F	441168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	116784510	116784510	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:116784510G>A	ENST00000368605.1	+	3	685	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.R25Q	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	197					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TCTGTCACCCGATGCCTATCT	0.378																																						.											0													168.0	165.0	166.0					6																	116784510		2203	4300	6503	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 187"""	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.590G>A	6.37:g.116784510G>A	ENSP00000357594:p.Arg197Gln		B9EJB0|Q5R3K4	Missense_Mutation	SNP	ENST00000368605.1	37	CCDS34519.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160601	0.38119	.	.	ENSG00000188820	ENST00000368606;ENST00000368605;ENST00000368604	T;T;T	0.18960	2.18;2.18;2.18	5.11	0.291	0.15732	.	0.313768	0.24436	N	0.038546	T	0.06917	0.0176	M	0.63208	1.945	0.19300	N	0.99997	P	0.34800	0.469	B	0.26416	0.069	T	0.21586	-1.0241	10	0.36615	T	0.2	-0.8065	9.9369	0.41556	0.3389:0.0:0.6611:0.0	.	197	Q5R3K3	FA26F_HUMAN	Q	25;197;40	ENSP00000357595:R25Q;ENSP00000357594:R197Q;ENSP00000357593:R40Q	ENSP00000357593:R40Q	R	+	2	0	FAM26F	116891203	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.122000	0.10627	0.078000	0.16900	-0.136000	0.14681	CGA		0.378	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041946.1	NM_001010919	
PODXL	5420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	131189141	131189141	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:131189141C>A	ENST00000378555.3	-	9	1853	c.1606G>T	c.(1606-1608)Gac>Tac	p.D536Y	PODXL_ENST00000537928.1_Missense_Mutation_p.D504Y|PODXL_ENST00000322985.9_Missense_Mutation_p.D504Y|PODXL_ENST00000541194.1_Missense_Mutation_p.D538Y			O00592	PODXL_HUMAN	podocalyxin-like	536					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATCCAGCTGTCCCCCAGCTCC	0.577																																						.											0													158.0	132.0	141.0					7																	131189141		2203	4300	6503	SO:0001583	missense	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1606G>T	7.37:g.131189141C>A	ENSP00000367817:p.Asp536Tyr		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930812	0.92389	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53190	0.1781	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54105	-0.8343	10	0.87932	D	0	-46.4256	18.7315	0.91736	0.0:1.0:0.0:0.0	.	504;536	O00592-2;O00592	.;PODXL_HUMAN	Y	538;504;494;536;504	ENSP00000440518:D538Y;ENSP00000442655:D504Y;ENSP00000367817:D536Y;ENSP00000319782:D504Y	ENSP00000319782:D504Y	D	-	1	0	PODXL	130839681	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.662000	0.90505	0.555000	0.69702	GAC		0.577	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
VIPR2	7434	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	158823446	158823446	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:158823446C>A	ENST00000262178.2	-	13	1363	c.1178G>T	c.(1177-1179)cGg>cTg	p.R393L	VIPR2_ENST00000377633.3_Missense_Mutation_p.R377L|VIPR2_ENST00000402066.1_Missense_Mutation_p.R534L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	393					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGTCGGGCACCGGCTTCGCCA	0.706																																					Pancreas(154;1876 1931 2329 17914 20079)	.											0													12.0	16.0	15.0					7																	158823446		2180	4293	6473	SO:0001583	missense	7434			CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1178G>T	7.37:g.158823446C>A	ENSP00000262178:p.Arg393Leu		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764687	0.15914	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.64260	-0.09;-0.09;-0.09	5.23	-2.09	0.07232	.	0.972737	0.08346	N	0.960015	T	0.25680	0.0625	N	0.00583	-1.355	0.19575	N	0.999965	B	0.02656	0.0	B	0.01281	0.0	T	0.19386	-1.0307	10	0.28530	T	0.3	.	8.2774	0.31881	0.3583:0.4777:0.0:0.164	.	393	P41587	VIPR2_HUMAN	L	393;377;534	ENSP00000262178:R393L;ENSP00000366860:R377L;ENSP00000384497:R534L	ENSP00000262178:R393L	R	-	2	0	VIPR2	158516207	0.254000	0.23992	0.005000	0.12908	0.288000	0.27193	0.645000	0.24782	-0.671000	0.05274	-0.678000	0.03780	CGG		0.706	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	
SH3KBP1	30011	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	X	19854348	19854348	+	Silent	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:19854348C>T	ENST00000397821.3	-	2	347	c.57G>A	c.(55-57)acG>acA	p.T19T	SH3KBP1_ENST00000379697.3_Silent_p.T19T	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	19	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCACGCTGATCGTCAGCTCAT	0.512																																						.											0													201.0	155.0	171.0					X																	19854348		2203	4300	6503	SO:0001819	synonymous_variant	30011			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.57G>A	X.37:g.19854348C>T			B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	CCDS14193.1																																																																																				0.512	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	
TAF1	6872	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	70627428	70627428	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:70627428C>T	ENST00000373790.4	+	27	4160	c.4109C>T	c.(4108-4110)cCt>cTt	p.P1370L	TAF1_ENST00000449580.1_Missense_Mutation_p.P1370L|TAF1_ENST00000423759.1_Missense_Mutation_p.P1391L|TAF1_ENST00000276072.3_Missense_Mutation_p.P1391L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1370	Interaction with ASF1A and ASF1B.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTTAGAGACCTCATAAGTCC	0.468																																						.											0													85.0	77.0	80.0					X																	70627428		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4109C>T	X.37:g.70627428C>T	ENSP00000362895:p.Pro1370Leu		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	20.6|20.6	4.021085|4.021085	0.75275|0.75275	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000463163;ENST00000437147|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.19532	.|2.14;2.14;2.14;2.14	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Bromodomain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.20007|0.20007	0.0481|0.0481	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.45715	.|0.002;0.865;0.007	.|B;B;B	.|0.34722	.|0.002;0.188;0.008	T|T	0.12682|0.12682	-1.0538|-1.0538	5|10	.|0.11485	.|T	.|0.65	.|.	17.4533|17.4533	0.87599|0.87599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1370;1370;1391	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	F|L	36;25|1370;1370;1391;76;76;1391	.|ENSP00000362895:P1370L;ENSP00000389000:P1370L;ENSP00000406549:P1391L;ENSP00000276072:P1391L	.|ENSP00000276072:P1391L	L|P	+|+	1|2	0|0	TAF1|TAF1	70544153|70544153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	7.317000|7.317000	0.79018|0.79018	2.305000|2.305000	0.77605|0.77605	0.462000|0.462000	0.41574|0.41574	CTC|CCT		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
MTCH2	23788	broad.mit.edu;hgsc.bcm.edu	37	11	47653265	47653265	+	Splice_Site	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:47653265T>C	ENST00000302503.3	-	6	527		c.e6-2		MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2						protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGAGTTGTCTAGAAACAATC	0.418																																						.											0													149.0	120.0	130.0					11																	47653265		2201	4298	6499	SO:0001630	splice_region_variant	23788			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.370-2A>G	11.37:g.47653265T>C			B2R7L8	Splice_Site	SNP	ENST00000302503.3	37	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425426	0.83667	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9784	0.71293	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTCH2	47609841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.465000	0.73538	2.188000	0.69820	0.533000	0.62120	.		0.418	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342	Intron
BPTF	2186	hgsc.bcm.edu;bcgsc.ca	37	17	65908787	65908787	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:65908787C>T	ENST00000321892.4	+	13	5226	c.5165C>T	c.(5164-5166)gCc>gTc	p.A1722V	BPTF_ENST00000335221.5_Missense_Mutation_p.A1722V|BPTF_ENST00000306378.6_Missense_Mutation_p.A1596V|BPTF_ENST00000424123.3_Missense_Mutation_p.A1583V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1722	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCACAGTGGCCACAGAATCA	0.408																																						.											0													83.0	83.0	83.0					17																	65908787		2203	4300	6503	SO:0001583	missense	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5165C>T	17.37:g.65908787C>T	ENSP00000315454:p.Ala1722Val		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	C	14.36	2.511205	0.44660	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63580	-0.05;-0.05;-0.05	5.47	5.47	0.80525	.	.	.	.	.	T	0.68696	0.3029	N	0.24115	0.695	0.28907	N	0.892942	D;D	0.69078	0.995;0.997	P;D	0.66196	0.871;0.942	T	0.66540	-0.5898	9	0.72032	D	0.01	-10.0118	17.8666	0.88796	0.0:1.0:0.0:0.0	.	1596;1722	Q12830-2;Q12830-4	.;.	V	1596;1722;1722	ENSP00000307208:A1596V;ENSP00000334351:A1722V;ENSP00000315454:A1722V	ENSP00000307208:A1596V	A	+	2	0	BPTF	63339249	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.725000	0.68507	2.728000	0.93425	0.650000	0.86243	GCC		0.408	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
GRAMD1C	54762	hgsc.bcm.edu;mdanderson.org	37	3	113623086	113623086	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:113623086A>G	ENST00000358160.4	+	8	1248	c.756A>G	c.(754-756)gaA>gaG	p.E252E	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.E47E|GRAMD1C_ENST00000472026.1_Silent_p.E85E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	252						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GGGTTTCAGAAACAGAGTCAT	0.363																																						.											0													79.0	86.0	83.0					3																	113623086		2203	4300	6503	SO:0001819	synonymous_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.756A>G	3.37:g.113623086A>G			A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.363	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
ZNHIT6	54680	broad.mit.edu	37	1	86167918	86167918	+	Missense_Mutation	SNP	C	C	T	rs542482220		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:86167918C>T	ENST00000370574.3	-	5	1074	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R275Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	314					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACCTTGCCTCCGGGCACGATT	0.294													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.0					.											0													65.0	65.0	65.0					1																	86167918		2202	4299	6501	SO:0001583	missense	54680			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.941G>A	1.37:g.86167918C>T	ENSP00000359606:p.Arg314Gln		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641969	0.87859	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.46819	0.9;0.86	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.56031	0.1958	L	0.50333	1.59	0.47547	D	0.999456	D;D	0.89917	0.965;1.0	B;D	0.66497	0.343;0.944	T	0.52593	-0.8555	10	0.45353	T	0.12	-10.7858	19.0665	0.93113	0.0:1.0:0.0:0.0	.	275;314	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	275;314	ENSP00000414344:R275Q;ENSP00000359606:R314Q	ENSP00000359606:R314Q	R	-	2	0	ZNHIT6	85940506	1.000000	0.71417	0.973000	0.42090	0.874000	0.50279	5.529000	0.67135	2.666000	0.90696	0.555000	0.69702	CGG		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
APEX1	328	broad.mit.edu	37	14	20925577	20925578	+	Frame_Shift_Del	DEL	CT	CT	-	rs565835054		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:20925577_20925578delCT	ENST00000216714.3	+	5	1135_1136	c.867_868delCT	c.(865-870)cactctfs	p.S290fs	APEX1_ENST00000555414.1_Frame_Shift_Del_p.S290fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.S290fs|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	290	Mitochondrial targeting sequence (MTS).				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTACC	0.485								Other BER factors																														.											0																																										SO:0001589	frameshift_variant	328			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.867_868delCT	14.37:g.20925581_20925582delCT	ENSP00000216714:p.Ser290fs		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	CCDS9550.1																																																																																				0.485	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
CORO7	79585	broad.mit.edu;mdanderson.org;bcgsc.ca	37	16	4445319	4445319	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:4445319C>T	ENST00000251166.4	-	7	731	c.586G>A	c.(586-588)Gac>Aac	p.D196N	CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D196N|CORO7_ENST00000537233.2_Missense_Mutation_p.D178N|CORO7_ENST00000423908.2_Missense_Mutation_p.D28N|CORO7_ENST00000539968.1_5'UTR|CORO7_ENST00000574025.1_Missense_Mutation_p.D111N	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	196					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GTTCTGGGGTCAAAGATCCGC	0.602																																						.											0													71.0	73.0	72.0					16																	4445319		2197	4300	6497	SO:0001583	missense	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.586G>A	16.37:g.4445319C>T	ENSP00000251166:p.Asp196Asn		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325399	0.81580	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000423908	T;T	0.02158	4.42;4.42	4.17	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.660420	0.15690	N	0.249481	T	0.07818	0.0196	L	0.45228	1.405	0.47123	D	0.999322	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.91635	0.998;0.997;0.994;0.999	T	0.28235	-1.0050	10	0.49607	T	0.09	-25.4858	11.8635	0.52480	0.0:1.0:0.0:0.0	.	111;178;196;177	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	N	196;111;28	ENSP00000251166:D196N;ENSP00000391530:D28N	ENSP00000251166:D196N	D	-	1	0	CORO7	4385320	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	3.870000	0.56070	2.135000	0.66039	0.563000	0.77884	GAC		0.602	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
SSTR2	6752	broad.mit.edu	37	17	71165682	71165682	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:71165682A>G	ENST00000357585.2	+	2	593	c.224A>G	c.(223-225)aAg>aGg	p.K75R	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Missense_Mutation_p.K75R	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCCAAGATGAAGACCATCACC	0.488																																						.											0													251.0	202.0	219.0					17																	71165682		2203	4300	6503	SO:0001583	missense	6752				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.224A>G	17.37:g.71165682A>G	ENSP00000350198:p.Lys75Arg		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323068	0.81580	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.33438	1.41;1.41	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.38838	1.175	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.42632	-0.9440	10	0.62326	D	0.03	.	15.7807	0.78257	1.0:0.0:0.0:0.0	.	75	P30874	SSR2_HUMAN	R	75	ENSP00000350198:K75R;ENSP00000326616:K75R	ENSP00000326616:K75R	K	+	2	0	SSTR2	68677277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.204000	0.70986	0.528000	0.53228	AAG		0.488	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1		
CXXC1	30827	broad.mit.edu;mdanderson.org;bcgsc.ca	37	18	47812501	47812501	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr18:47812501T>G	ENST00000285106.6	-	4	1064	c.350A>C	c.(349-351)gAc>gCc	p.D117A	CXXC1_ENST00000412036.2_Missense_Mutation_p.D117A|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.D117A	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	117				D -> N (in Ref. 1; AAF37799). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCGCTGCAGGTCTGGATCAGG	0.662																																						.											0													69.0	79.0	76.0					18																	47812501		2203	4300	6503	SO:0001583	missense	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.350A>C	18.37:g.47812501T>G	ENSP00000285106:p.Asp117Ala		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	1.870	-0.460559	0.04508	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.21734	1.99;1.99	3.62	2.31	0.28768	.	0.645728	0.15896	N	0.239283	T	0.07143	0.0181	N	0.03608	-0.345	0.27244	N	0.959062	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.36601	-0.9741	10	0.10636	T	0.68	-7.7695	6.2987	0.21101	0.0:0.0:0.2571:0.7428	.	117;117;117;117	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	A	117	ENSP00000285106:D117A;ENSP00000390475:D117A	ENSP00000285106:D117A	D	-	2	0	CXXC1	46066499	0.817000	0.29147	0.994000	0.49952	0.808000	0.45660	1.338000	0.33873	1.621000	0.50320	0.443000	0.29094	GAC		0.662	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593	
MUC16	94025	broad.mit.edu	37	19	9068199	9068199	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr19:9068199T>C	ENST00000397910.4	-	3	19450	c.19247A>G	c.(19246-19248)aAg>aGg	p.K6416R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6418	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGTGGGCTTTTCAGTGCC	0.488																																						.											0													197.0	199.0	198.0					19																	9068199		2039	4182	6221	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19247A>G	19.37:g.9068199T>C	ENSP00000381008:p.Lys6416Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	4.954	0.177185	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.15	-0.166	0.13351	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.44174	-0.9345	8	0.87932	D	0	.	2.7232	0.05206	0.0:0.1679:0.2728:0.5592	.	6416	B5ME49	.	R	6416	ENSP00000381008:K6416R	ENSP00000381008:K6416R	K	-	2	0	MUC16	8929199	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.030000	0.13688	-0.106000	0.12110	0.149000	0.16113	AAG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
KIDINS220	57498	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	8871660	8871660	+	Silent	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:8871660G>A	ENST00000256707.3	-	30	4687	c.4506C>T	c.(4504-4506)ctC>ctT	p.L1502L	KIDINS220_ENST00000473731.1_Silent_p.L1483L|KIDINS220_ENST00000427284.1_Silent_p.L1483L|KIDINS220_ENST00000418530.1_Silent_p.L1403L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1502					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGTCTGGAAGAGGCTTGACC	0.468																																						.											0													52.0	53.0	53.0					2																	8871660		1887	4107	5994	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4506C>T	2.37:g.8871660G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
EHBP1	23301	broad.mit.edu	37	2	63223821	63223821	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:63223821C>A	ENST00000263991.5	+	21	3718	c.3236C>A	c.(3235-3237)gCa>gAa	p.A1079E	EHBP1_ENST00000431489.1_Missense_Mutation_p.A1008E|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1044E|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1044E|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1008E	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1079						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGAATTGGCAGCACTAGAG	0.448																																						.											0													125.0	119.0	121.0					2																	63223821		2203	4300	6503	SO:0001583	missense	23301			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3236C>A	2.37:g.63223821C>A	ENSP00000263991:p.Ala1079Glu		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173753	0.57692	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.19	5.19	0.71726	Domain of unknown function DUF3585 (1);	0.071022	0.56097	D	0.000032	T	0.36799	0.0980	N	0.10685	0.025	0.58432	D	0.999994	D;B;D	0.89917	1.0;0.167;1.0	D;B;D	0.91635	0.998;0.221;0.999	T	0.10497	-1.0627	10	0.02654	T	1	.	18.7221	0.91698	0.0:1.0:0.0:0.0	.	1044;1008;1079	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	E	1008;1008;1079;1044;1044;50	ENSP00000384143:A1008E;ENSP00000403783:A1008E;ENSP00000263991:A1079E;ENSP00000346482:A1044E;ENSP00000385524:A1044E	ENSP00000263991:A1079E	A	+	2	0	EHBP1	63077325	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.438000	0.82558	0.650000	0.86243	GCA		0.448	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252	
LRP1B	53353	broad.mit.edu	37	2	141819781	141819781	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:141819781T>C	ENST00000389484.3	-	8	2046	c.1075A>G	c.(1075-1077)Atg>Gtg	p.M359V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	359					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTCGGTTCATCCCATCCATG	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	.											0													152.0	133.0	140.0					2																	141819781		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1075A>G	2.37:g.141819781T>C	ENSP00000374135:p.Met359Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	9.638	1.138221	0.21123	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90955	-2.76	5.63	4.45	0.53987	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.114080	0.64402	D	0.000015	T	0.82185	0.4982	N	0.12182	0.205	0.25313	N	0.989186	B	0.06786	0.001	B	0.04013	0.001	T	0.73678	-0.3907	10	0.72032	D	0.01	.	13.0624	0.59014	0.0:0.0:0.1345:0.8655	.	359	Q9NZR2	LRP1B_HUMAN	V	359;297	ENSP00000374135:M359V	ENSP00000374135:M359V	M	-	1	0	LRP1B	141536251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.772000	0.38552	1.039000	0.40074	0.533000	0.62120	ATG		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TTN	7273	broad.mit.edu	37	2	179480474	179480474	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:179480474A>G	ENST00000591111.1	-	208	43655	c.43431T>C	c.(43429-43431)gaT>gaC	p.D14477D	TTN_ENST00000359218.5_Silent_p.D7178D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.D7053D|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.D7245D|TTN_ENST00000589042.1_Silent_p.D16118D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.D13550D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14477	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAACAAGATCAGGAACTG	0.378																																						.											0													101.0	94.0	96.0					2																	179480474		1854	4096	5950	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43431T>C	2.37:g.179480474A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CELSR1	9620	broad.mit.edu;mdanderson.org	37	22	46763729	46763729	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:46763729A>G	ENST00000262738.3	-	28	7975	c.7976T>C	c.(7975-7977)cTc>cCc	p.L2659P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2659	Poly-Leu.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCAGCAGGAGGAATGCGGT	0.642											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													37.0	33.0	35.0					22																	46763729		2199	4299	6498	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7976T>C	22.37:g.46763729A>G	ENSP00000262738:p.Leu2659Pro	941	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	a	24.5	4.535840	0.85812	.	.	ENSG00000075275	ENST00000262738	T	0.37915	1.17	4.76	4.76	0.60689	GPCR, family 2-like (1);	0.103749	0.39834	U	0.001258	T	0.61999	0.2392	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.68164	-0.5481	10	0.62326	D	0.03	.	13.9897	0.64357	1.0:0.0:0.0:0.0	.	2659	Q9NYQ6	CELR1_HUMAN	P	2659	ENSP00000262738:L2659P	ENSP00000262738:L2659P	L	-	2	0	CELSR1	45142393	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.859000	0.75467	1.778000	0.52293	0.463000	0.42550	CTC		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
PALLD	23022	broad.mit.edu	37	4	169837136	169837136	+	Silent	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:169837136T>C	ENST00000505667.1	+	17	2981	c.2808T>C	c.(2806-2808)gaT>gaC	p.D936D	PALLD_ENST00000507735.1_Silent_p.D432D|PALLD_ENST00000512127.1_Silent_p.D537D|PALLD_ENST00000261509.6_Silent_p.D919D|PALLD_ENST00000335742.7_Silent_p.D761D|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1143					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCCTGGAGATCTGACTGTTC	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	.											0													97.0	101.0	100.0					4																	169837136		2203	4300	6503	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2808T>C	4.37:g.169837136T>C			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	CCDS54818.1																																																																																				0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
HMGCS1	3157	broad.mit.edu	37	5	43297257	43297257	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:43297257T>C	ENST00000325110.6	-	5	792	c.586A>G	c.(586-588)Aca>Gca	p.T196A	HMGCS1_ENST00000433297.2_Missense_Mutation_p.T196A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	196					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGCATATGTGTCCCACGAAGC	0.368																																						.											0													116.0	118.0	118.0					5																	43297257		2203	4300	6503	SO:0001583	missense	3157				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.586A>G	5.37:g.43297257T>C	ENSP00000322706:p.Thr196Ala		B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	33	5.211012	0.95069	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	T;T	0.77750	-1.12;-1.12	5.96	5.96	0.96718	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.72624	2.21	0.80722	D	1	P	0.43938	0.822	P	0.45232	0.474	D	0.83710	0.0187	10	0.87932	D	0	-19.8309	16.4381	0.83884	0.0:0.0:0.0:1.0	.	196	Q01581	HMCS1_HUMAN	A	196;196;185	ENSP00000322706:T196A;ENSP00000399402:T196A	ENSP00000322706:T196A	T	-	1	0	HMGCS1	43333014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.280000	0.76307	0.533000	0.62120	ACA		0.368	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1		
SH3TC2	79628	broad.mit.edu	37	5	148407015	148407015	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:148407015A>G	ENST00000515425.1	-	11	2381	c.2280T>C	c.(2278-2280)tgT>tgC	p.C760C	SH3TC2_ENST00000512049.1_Silent_p.C753C|SH3TC2_ENST00000394358.2_Silent_p.C645C|SH3TC2_ENST00000538184.1_Silent_p.C307C|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	760					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGATGAGACACAGGGCCC	0.617																																						.											0													53.0	59.0	57.0					5																	148407015		2203	4300	6503	SO:0001819	synonymous_variant	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2280T>C	5.37:g.148407015A>G			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	CCDS4293.1																																																																																				0.617	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
DPY19L2P1	554236	broad.mit.edu	37	7	35131521	35131521	+	RNA	SNP	G	G	A	rs200009436		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:35131521G>A	ENST00000436258.1	-	0	1848							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACGCTTGCCATTG	0.398																																						.											0																																												554236			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131521G>A			B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																					0.398	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1		
LRCH4	4034	broad.mit.edu	37	7	100174729	100174729	+	Silent	SNP	C	C	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr7:100174729C>A	ENST00000310300.6	-	12	1396	c.1344G>T	c.(1342-1344)gtG>gtT	p.V448V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	448					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGAGTGGACACGGCGGCGG	0.602																																						.											0													87.0	84.0	85.0					7																	100174729		2203	4300	6503	SO:0001819	synonymous_variant	4034			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1344G>T	7.37:g.100174729C>A			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	ENST00000310300.6	37	CCDS34706.1																																																																																				0.602	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319	
ANKRD18A	253650	broad.mit.edu	37	9	38577058	38577058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr9:38577058delT	ENST00000399703.5	-	14	3107	c.2733delA	c.(2731-2733)aaafs	p.K911fs	ANKRD18A_ENST00000313339.3_Frame_Shift_Del_p.K32fs|ANKRD18A_ENST00000607974.1_Frame_Shift_Del_p.K32fs|ANKRD18A_ENST00000566717.2_Frame_Shift_Del_p.K49fs|ANKRD18A_ENST00000357072.5_5'UTR	NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	911										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						ACTTCATTAATTTTTTTGACA	0.323																																						.											0													24.0	20.0	21.0					9																	38577058		692	1580	2272	SO:0001589	frameshift_variant	253650			AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.2733delA	9.37:g.38577058delT	ENSP00000382610:p.Lys911fs		A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Frame_Shift_Del	DEL	ENST00000399703.5	37	CCDS55311.1																																																																																				0.323	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052506.3		
TJP2	9414	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	71845079	71845079	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr9:71845079T>G	ENST00000377245.4	+	11	1810	c.1602T>G	c.(1600-1602)ttT>ttG	p.F534L	TJP2_ENST00000539225.1_Missense_Mutation_p.F565L|TJP2_ENST00000453658.2_Missense_Mutation_p.F511L|TJP2_ENST00000265384.7_Missense_Mutation_p.F534L|TJP2_ENST00000348208.4_Missense_Mutation_p.F534L|TJP2_ENST00000535702.1_Missense_Mutation_p.F538L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	534	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCGGGATATTTGTTGCTGGCA	0.517																																						.											0													86.0	85.0	86.0					9																	71845079		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1602T>G	9.37:g.71845079T>G	ENSP00000366453:p.Phe534Leu		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412389	0.83340	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	5.86	3.5	0.40072	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.71871	2.18	0.80722	D	1	B;D;D;P;P	0.71674	0.208;0.981;0.998;0.857;0.458	B;P;D;P;B	0.80764	0.038;0.86;0.994;0.498;0.2	T	0.71272	-0.4642	10	0.87932	D	0	.	10.9646	0.47406	0.0:0.1323:0.0:0.8677	.	565;538;534;534;534	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	L	511;534;534;534;538;565	ENSP00000392178:F511L;ENSP00000366453:F534L;ENSP00000345893:F534L;ENSP00000265384:F534L;ENSP00000442090:F538L;ENSP00000438262:F565L	ENSP00000265384:F534L	F	+	3	2	TJP2	71034899	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.278000	0.33179	1.145000	0.42336	0.528000	0.53228	TTT		0.517	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629	
KDM5C	8242	broad.mit.edu;mdanderson.org	37	X	53239928	53239928	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:53239928C>T	ENST00000375401.3	-	11	2045	c.1513G>A	c.(1513-1515)Ggc>Agc	p.G505S	KDM5C_ENST00000452825.3_Missense_Mutation_p.G438S|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Missense_Mutation_p.G464S|KDM5C_ENST00000404049.3_Missense_Mutation_p.G504S|KDM5C_ENST00000375379.3_Missense_Mutation_p.G505S	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	505	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AAGACCATGCCCACGTAGAGC	0.522			"""N, F, S"""		clear cell renal carcinoma																																	.		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													167.0	110.0	129.0					X																	53239928		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1513G>A	X.37:g.53239928C>T	ENSP00000364550:p.Gly505Ser		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778962	0.90195	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.42	5.42	0.78866	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89873	0.6841	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92637	0.6121	10	0.87932	D	0	-17.5819	15.4991	0.75680	0.0:1.0:0.0:0.0	.	438;504;505	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	S	438;505;504;505;464	ENSP00000445176:G438S;ENSP00000364550:G505S;ENSP00000385394:G504S;ENSP00000364528:G505S;ENSP00000364532:G464S	ENSP00000364528:G505S	G	-	1	0	KDM5C	53256653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.784000	0.85713	2.252000	0.74401	0.600000	0.82982	GGC		0.522	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
SLITRK2	84631	broad.mit.edu	37	X	144906354	144906354	+	Missense_Mutation	SNP	A	A	G	rs369952590		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrX:144906354A>G	ENST00000370490.1	+	1	6666	c.2411A>G	c.(2410-2412)tAt>tGt	p.Y804C	SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y804C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y804C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y804C|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y804C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	804					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTTTTATATGGAACTCCC	0.448																																						.											0								A	CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR,CYS/TYR	0,3835		0,0,0,1632,571	103.0	101.0	102.0		2411,2411,2411,2411,2411,2411,2411,2411	5.4	1.0	X		102	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense,missense,missense,missense,missense	SLITRK2	NM_001144003.2,NM_001144004.2,NM_001144005.2,NM_001144006.2,NM_001144008.2,NM_001144009.2,NM_001144010.2,NM_032539.4	194,194,194,194,194,194,194,194	0,0,1,4060,2442	GG,GA,G,AA,A		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	804/846,804/846,804/846,804/846,804/846,804/846,804/846,804/846	144906354	1,10562	2203	4300	6503	SO:0001583	missense	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2411A>G	X.37:g.144906354A>G	ENSP00000359521:p.Tyr804Cys		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187848	0.57909	0.0	1.49E-4	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72120	0.3421	M	0.61703	1.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.74746	-0.3561	10	0.66056	D	0.02	-6.9413	12.2755	0.54733	1.0:0.0:0.0:0.0	.	804	Q9H156	SLIK2_HUMAN	C	804	ENSP00000411681:Y804C;ENSP00000359521:Y804C;ENSP00000397015:Y804C;ENSP00000407347:Y804C;ENSP00000412010:Y804C	ENSP00000359521:Y804C	Y	+	2	0	SLITRK2	144714046	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	1.803000	0.52742	0.486000	0.48141	TAT		0.448	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
IL37	27178	broad.mit.edu	37	2	113671391	113671392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr2:113671391_113671392insC	ENST00000263326.3	+	2	147_148	c.105_106insC	c.(106-108)ccafs	p.P36fs	IL37_ENST00000352179.3_Intron|IL37_ENST00000353225.3_Frame_Shift_Ins_p.P36fs|IL37_ENST00000349806.3_Intron|IL37_ENST00000311328.2_5'Flank	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	36					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GCCCCCTGGAACCAGGCCCAAG	0.55																																						.											0																																										SO:0001589	frameshift_variant	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.107dupC	2.37:g.113671393_113671393dupC	ENSP00000263326:p.Pro36fs		B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Frame_Shift_Ins	INS	ENST00000263326.3	37	CCDS2103.1																																																																																				0.550	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254126.1	NM_014439	
MFSD10	10227	broad.mit.edu	37	4	2935348	2935349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:2935348_2935349insA	ENST00000329687.4	-	2	747_748	c.213_214insT	c.(211-216)tttgccfs	p.A72fs	MFSD10_ENST00000355443.4_Frame_Shift_Ins_p.A72fs|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000507555.1_Frame_Shift_Ins_p.A72fs|MFSD10_ENST00000514800.1_Frame_Shift_Ins_p.A72fs|MFSD10_ENST00000508221.1_Frame_Shift_Ins_p.A72fs	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	72					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGGCGGTGGCAAACCAGTCCA	0.629																																						.											0																																										SO:0001589	frameshift_variant	10227			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.214dupT	4.37:g.2935351_2935351dupA	ENSP00000332646:p.Ala72fs		Q07706	Frame_Shift_Ins	INS	ENST00000329687.4	37	CCDS3365.1																																																																																				0.629	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358072.2	NM_001120	
ARVCF	421	ucsc.edu	37	22	19967489	19967489	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr22:19967489A>G	ENST00000263207.3	-	6	1464	c.1173T>C	c.(1171-1173)ggT>ggC	p.G391G	ARVCF_ENST00000406522.1_Silent_p.G328G|ARVCF_ENST00000406259.1_Silent_p.G391G|ARVCF_ENST00000401994.1_Silent_p.G328G|ARVCF_ENST00000344269.3_Silent_p.G328G|ARVCF_ENST00000487793.1_5'Flank	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	391					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCCGCTTGACACCCTCGTTCT	0.697																																						.											0													19.0	18.0	18.0					22																	19967489		2185	4281	6466	SO:0001819	synonymous_variant	421				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1173T>C	22.37:g.19967489A>G			B7WNV2	Silent	SNP	ENST00000263207.3	37	CCDS13771.1																																																																																				0.697	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670	
BEGAIN	57596	ucsc.edu	37	14	101005154	101005154	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr14:101005154G>T	ENST00000355173.2	-	7	1005	c.934C>A	c.(934-936)Cac>Aac	p.H312N	BEGAIN_ENST00000443071.2_Missense_Mutation_p.H312N|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.H248N	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	312						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCTGCGCGTGCTCCTTCTCC	0.682																																					NSCLC(159;1889 2010 9965 27479 40101)	.											0													36.0	33.0	34.0					14																	101005154		2197	4299	6496	SO:0001583	missense	57596			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.934C>A	14.37:g.101005154G>T	ENSP00000347301:p.His312Asn		Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566895	0.03910	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	3.5	0.40072	.	0.369879	0.29417	N	0.012213	T	0.19644	0.0472	N	0.13043	0.29	0.28097	N	0.931556	B	0.09022	0.002	B	0.08055	0.003	T	0.18116	-1.0347	9	0.07813	T	0.8	.	6.959	0.24587	0.0:0.1379:0.5106:0.3515	.	312	Q9BUH8	BEGIN_HUMAN	N	312;248;312	.	ENSP00000347301:H312N	H	-	1	0	BEGAIN	100074907	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	2.716000	0.47219	2.036000	0.60181	0.462000	0.41574	CAC		0.682	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836	
CACNA1H	8912	ucsc.edu	37	16	1260601	1260601	+	Missense_Mutation	SNP	G	G	A	rs28365125		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr16:1260601G>A	ENST00000348261.5	+	20	4236	c.3988G>A	c.(3988-3990)Gtc>Atc	p.V1330I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1330I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1330I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1330					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTTCCTCAGCGTCTCCAATTA	0.672																																						.											0								G	ILE/VAL,ILE/VAL	1,3987		0,1,1993	31.0	36.0	34.0		3988,3988	3.4	1.0	16	dbSNP_126	34	1,8313		0,1,4156	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	29,29	0,2,6149	AA,AG,GG		0.012,0.0251,0.0163	possibly-damaging,possibly-damaging	1330/2348,1330/2354	1260601	2,12300	1994	4157	6151	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3988G>A	16.37:g.1260601G>A	ENSP00000334198:p.Val1330Ile		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492879	0.26774	2.51E-4	1.2E-4	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97404	-4.37;-4.37	4.33	3.37	0.38596	.	0.069856	0.56097	D	0.000030	D	0.91392	0.7284	N	0.17838	0.53	0.26391	N	0.976573	B;B;B;B;B	0.33000	0.393;0.016;0.035;0.012;0.068	B;B;B;B;B	0.23275	0.04;0.045;0.013;0.005;0.027	D	0.84502	0.0617	10	0.34782	T	0.22	.	11.7075	0.51605	0.0879:0.0:0.9121:0.0	rs28365125;rs45605133	71;71;71;1330;1330	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	I	1330	ENSP00000334198:V1330I;ENSP00000351401:V1330I	ENSP00000334198:V1330I	V	+	1	0	CACNA1H	1200602	0.996000	0.38824	1.000000	0.80357	0.952000	0.60782	2.631000	0.46502	1.034000	0.39945	0.543000	0.68304	GTC		0.672	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
FMO2	2327	ucsc.edu	37	1	171165803	171165803	+	Missense_Mutation	SNP	G	G	T	rs28369860	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:171165803G>T	ENST00000209929.7	+	4	495	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.V113L|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	113					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCCTTAGTGTGAGAAAATG	0.453																																						.											0			GRCh37	CD033950	FMO2	D	rs28369860						106.0	106.0	106.0					1																	171165803		2093	4290	6383	SO:0001583	missense	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.337G>T	1.37:g.171165803G>T	ENSP00000209929:p.Val113Leu		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163831	0.78226	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.59083	0.29;0.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.83774	2.66	0.43803	D	0.996352	P	0.52061	0.95	P	0.57283	0.817	T	0.72010	-0.4419	10	0.62326	D	0.03	-22.4683	12.6102	0.56546	0.0796:0.0:0.9204:0.0	.	113	Q99518	FMO2_HUMAN	L	113	ENSP00000209929:V113L;ENSP00000405905:V113L	ENSP00000209929:V113L	V	+	1	0	FMO2	169432427	0.996000	0.38824	0.998000	0.56505	0.873000	0.50193	2.307000	0.43682	2.690000	0.91761	0.655000	0.94253	GTG		0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
GABBR1	2550	ucsc.edu	37	6	29580384	29580384	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr6:29580384A>G	ENST00000377034.4	-	13	1909	c.1574T>C	c.(1573-1575)gTg>gCg	p.V525A	GABBR1_ENST00000376977.3_Missense_Mutation_p.V525A|GABBR1_ENST00000377012.4_Missense_Mutation_p.V408A|GABBR1_ENST00000377016.4_Missense_Mutation_p.V463A|GABBR1_ENST00000355973.3_Missense_Mutation_p.V408A	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	525					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ATCAAACACCACATGGCCCTG	0.532																																						.											0													90.0	79.0	83.0					6																	29580384		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1574T>C	6.37:g.29580384A>G	ENSP00000366233:p.Val525Ala		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592099	0.86953	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.86	5.86	0.93980	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.83275	0.99;0.994;0.996;0.994	D	0.91670	0.5349	10	0.87932	D	0	-6.9297	14.1969	0.65677	1.0:0.0:0.0:0.0	.	525;463;525;408	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	A	408;525;463;408;525	ENSP00000348248:V408A;ENSP00000366176:V525A;ENSP00000366215:V463A;ENSP00000366211:V408A;ENSP00000366233:V525A	ENSP00000348248:V408A	V	-	2	0	GABBR1	29688363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.901000	0.92560	2.241000	0.73720	0.482000	0.46254	GTG		0.532	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
KIF2C	11004	ucsc.edu	37	1	45228320	45228320	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:45228320A>G	ENST00000372224.4	+	19	2074	c.1961A>G	c.(1960-1962)gAg>gGg	p.E654G	RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.E541G|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.E613G|KIF2C_ENST00000372217.1_Missense_Mutation_p.E600G	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	654					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAGCTCAAGGAGATCATACAG	0.552																																						.											0													101.0	86.0	91.0					1																	45228320		2203	4300	6503	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1961A>G	1.37:g.45228320A>G	ENSP00000361298:p.Glu654Gly		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589719	0.46214	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.75938	-0.96;-0.78;-0.97;-0.98	5.95	4.8	0.61643	.	0.237765	0.41097	D	0.000955	T	0.55449	0.1921	N	0.08118	0	0.46678	D	0.999159	B;B;B	0.20550	0.046;0.002;0.001	B;B;B	0.20184	0.028;0.003;0.001	T	0.49021	-0.8982	10	0.32370	T	0.25	.	13.2066	0.59800	0.867:0.133:0.0:0.0	.	613;600;654	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	G	654;613;541;600	ENSP00000361298:E654G;ENSP00000361292:E613G;ENSP00000361296:E541G;ENSP00000361291:E600G	ENSP00000361291:E600G	E	+	2	0	KIF2C	45000907	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	4.272000	0.58908	1.043000	0.40175	0.533000	0.62120	GAG		0.552	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
LEPR	3953	ucsc.edu;bcgsc.ca	37	1	66083683	66083683	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:66083683A>G	ENST00000349533.6	+	16	2434	c.2249A>G	c.(2248-2250)aAc>aGc	p.N750S	LEPR_ENST00000371060.3_Missense_Mutation_p.N750S|LEPR_ENST00000371059.3_Missense_Mutation_p.N750S|LEPR_ENST00000344610.8_Missense_Mutation_p.N750S|LEPR_ENST00000371058.1_Missense_Mutation_p.N750S|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTTTAAACAGCAGTTGT	0.294																																						.											0													99.0	94.0	96.0					1																	66083683		2203	4298	6501	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2249A>G	1.37:g.66083683A>G	ENSP00000330393:p.Asn750Ser		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.558082	0.45590	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.72	4.6	0.57074	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.042460	0.85682	N	0.000000	T	0.28962	0.0719	L	0.56280	1.765	0.80722	D	1	B;B;B	0.33528	0.292;0.416;0.204	B;B;B	0.37550	0.129;0.253;0.084	T	0.08351	-1.0726	10	0.33141	T	0.24	-16.7179	10.9072	0.47086	0.9255:0.0:0.0745:0.0	.	750;750;750	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	S	750	ENSP00000340884:N750S;ENSP00000330393:N750S;ENSP00000360099:N750S;ENSP00000360098:N750S;ENSP00000360097:N750S	ENSP00000340884:N750S	N	+	2	0	LEPR	65856271	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.914000	0.63348	1.006000	0.39211	0.528000	0.53228	AAC		0.294	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
RASGEF1B	153020	ucsc.edu	37	4	82368697	82368697	+	Silent	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr4:82368697A>G	ENST00000264400.2	-	6	841	c.690T>C	c.(688-690)gtT>gtC	p.V230V	RASGEF1B_ENST00000509081.1_Silent_p.V229V|RASGEF1B_ENST00000335927.7_Silent_p.V188V	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	230	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CGAACGCCTGAACAAATTCTT	0.403																																						.											0													81.0	77.0	78.0					4																	82368697		2203	4300	6503	SO:0001819	synonymous_variant	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.690T>C	4.37:g.82368697A>G			Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Silent	SNP	ENST00000264400.2	37	CCDS34022.1																																																																																				0.403	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545	
DDX12P	440081	mdanderson.org	37	12	9583300	9583300	+	IGR	SNP	C	C	T	rs3891016		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr12:9583300C>T								RP13-735L24.1 (33087 upstream) : SNORA75 (14353 downstream)																							TGCCGAGTGGCCGCATGCAGC	0.667																																						.											0													7.0	10.0	9.0					12																	9583300		664	1554	2218	SO:0001628	intergenic_variant	440081																															12.37:g.9583300C>T				RNA	SNP		37																																																																																				0	0.667								
KIAA2013	90231	mdanderson.org	37	1	11985396	11985396	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:11985396A>G	ENST00000376572.3	-	1	1084	c.899T>C	c.(898-900)cTc>cCc	p.L300P	KIAA2013_ENST00000376576.3_Missense_Mutation_p.L300P	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	300						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCTTTTGAGCACCTGGGG	0.597																																						.											0													63.0	62.0	62.0					1																	11985396		2203	4300	6503	SO:0001583	missense	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.899T>C	1.37:g.11985396A>G	ENSP00000365756:p.Leu300Pro		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	ENST00000376572.3	37	CCDS141.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542851	0.27563	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	3.9	3.9	0.45041	.	0.451826	0.20244	N	0.096238	T	0.53706	0.1813	L	0.40543	1.245	0.54753	D	0.999987	D;D	0.69078	0.997;0.97	P;P	0.62382	0.901;0.859	T	0.50110	-0.8866	9	0.27082	T	0.32	-7.7378	5.53	0.16978	0.8693:0.0:0.1307:0.0	.	300;300	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	P	300	.	ENSP00000365756:L300P	L	-	2	0	KIAA2013	11907983	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.737000	0.55060	1.767000	0.52121	0.421000	0.28195	CTC		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346	
KRT38	8687	mdanderson.org	37	17	39595539	39595539	+	Silent	SNP	A	A	G	rs117668654	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr17:39595539A>G	ENST00000246646.3	-	3	647	c.648T>C	c.(646-648)gaT>gaC	p.D216D		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	216	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CCAGGGTCGCATCATCCAGGA	0.632													G|||	58	0.0115815	0.0008	0.0043	5008	,	,		17656	0.0278		0.0089	False		,,,				2504	0.0174					.											0													85.0	77.0	79.0					17																	39595539		2203	4300	6503	SO:0001819	synonymous_variant	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.648T>C	17.37:g.39595539A>G			A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
MAGI1	9223	mdanderson.org	37	3	65425591	65425591	+	Silent	SNP	T	T	C	rs374381483|rs79701778		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:65425591T>C	ENST00000497477.2	-	9	1232	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	MAGI1_ENST00000402939.2_Silent_p.Q411Q|MAGI1_ENST00000330909.8_Silent_p.Q411Q|MAGI1_ENST00000483466.1_Silent_p.Q411Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	411	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgttgctgctgct	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													61.0	60.0	61.0					3																	65425591		2191	4267	6458	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1233A>G	3.37:g.65425591T>C		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	T	1.469	-0.560380	0.03939	.	.	ENSG00000151276	ENST00000460329	.	.	.	2.82	-5.65	0.02459	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.21445	N	0.999683	.	.	.	.	.	.	T	0.31558	-0.9939	4	.	.	.	.	7.6202	0.28181	0.0:0.2714:0.1222:0.6064	.	.	.	.	S	292	.	.	N	-	2	0	MAGI1	65400631	0.067000	0.21026	0.000000	0.03702	0.001000	0.01503	-1.642000	0.02006	-1.408000	0.02040	-1.740000	0.00687	AAC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
MAGI1	9223	mdanderson.org	37	3	65425594	65425594	+	Silent	SNP	C	C	T	rs552500635	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr3:65425594C>T	ENST00000497477.2	-	9	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	MAGI1_ENST00000402939.2_Silent_p.Q410Q|MAGI1_ENST00000330909.8_Silent_p.Q410Q|MAGI1_ENST00000483466.1_Silent_p.Q410Q|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	410	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgttgctgctgctgtt	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	722	0.144169	0.0893	0.1282	5008	,	,		14940	0.2024		0.0825	False		,,,				2504	0.2331					.											0													65.0	61.0	62.0					3																	65425594		2199	4283	6482	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1230G>A	3.37:g.65425594C>T		1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		.	.	.	.	.	.	.	.	.	.	C	1.063	-0.672234	0.03403	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.3	-0.172	0.13327	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	0.8958	1.6281	0.02727	0.1431:0.3787:0.1264:0.3517	.	.	.	.	N	291	.	.	S	-	2	0	MAGI1	65400634	0.371000	0.25056	0.001000	0.08648	0.001000	0.01503	-1.015000	0.03637	-0.726000	0.04895	-0.813000	0.03139	AGC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
MUC5B	727897	mdanderson.org	37	11	1268481	1268481	+	Silent	SNP	G	G	A	rs186744090	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:1268481G>A	ENST00000529681.1	+	31	10429	c.10371G>A	c.(10369-10371)cgG>cgA	p.R3457R	MUC5B_ENST00000447027.1_Silent_p.R3460R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3457	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACGGGCGGTCCCTGCCCC	0.677																																						.											0													99.0	137.0	124.0					11																	1268481		2117	4240	6357	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10371G>A	11.37:g.1268481G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR1S2	219958	mdanderson.org	37	11	57971190	57971190	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr11:57971190G>A	ENST00000302592.6	-	1	463	c.464C>T	c.(463-465)aCt>aTt	p.T155I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T155I(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGTGAGCAAAGTGCCGAACCT	0.488																																						.											1	Substitution - Missense(1)	skin(1)											183.0	172.0	176.0					11																	57971190		2201	4296	6497	SO:0001583	missense	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.464C>T	11.37:g.57971190G>A	ENSP00000305469:p.Thr155Ile		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.862128	0.00552	.	.	ENSG00000197887	ENST00000302592	T	0.35421	1.31	4.47	0.804	0.18697	GPCR, rhodopsin-like superfamily (1);	1.024400	0.07804	N	0.956995	T	0.11367	0.0277	N	0.00525	-1.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24440	-1.0160	10	0.34782	T	0.22	.	7.5141	0.27590	0.6178:0.0:0.3822:0.0	.	155	Q8NGQ3	OR1S2_HUMAN	I	155	ENSP00000305469:T155I	ENSP00000305469:T155I	T	-	2	0	OR1S2	57727766	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	-0.153000	0.10144	0.277000	0.22141	-0.285000	0.09966	ACT		0.488	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459	
PABPC3	5042	mdanderson.org	37	13	25671795	25671795	+	Missense_Mutation	SNP	C	C	T	rs113416318	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr13:25671795C>T	ENST00000281589.3	+	1	1496	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	487					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGGGTCCACGTCctgcagc	0.522													c|||	175	0.0349441	0.0537	0.0403	5008	,	,		21647	0.0119		0.0159	False		,,,				2504	0.0491					.											0																																										SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1459C>T	13.37:g.25671795C>T	ENSP00000281589:p.Arg487Cys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862076	0.51482	.	.	ENSG00000151846	ENST00000281589	T	0.31247	1.5	0.875	0.875	0.19130	.	0.135300	0.32190	U	0.006459	T	0.29556	0.0737	L	0.59436	1.845	0.58432	D	0.999997	D	0.58970	0.984	P	0.45660	0.489	T	0.12630	-1.0540	10	0.72032	D	0.01	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	487	Q9H361	PABP3_HUMAN	C	487	ENSP00000281589:R487C	ENSP00000281589:R487C	R	+	1	0	PABPC3	24569795	1.000000	0.71417	0.944000	0.38274	0.640000	0.38277	4.773000	0.62331	0.759000	0.33084	0.313000	0.20887	CGT		0.522	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
RASSF3	283349	mdanderson.org	37	12	65004520	65004520	+	Silent	SNP	A	A	G	rs77813527	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr12:65004520A>G	ENST00000542104.1	+	1	228	c.108A>G	c.(106-108)caA>caG	p.Q36Q	RASSF3_ENST00000540088.1_3'UTR|RP11-338E21.1_ENST00000546135.1_RNA|RASSF3_ENST00000336061.2_Silent_p.Q36Q	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	36					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GCTCCGGCCAACAAGTGAGTG	0.726													G|||	624	0.124601	0.1755	0.121	5008	,	,		9170	0.0089		0.2078	False		,,,				2504	0.092					.											0								G	,	823,3551		97,629,1461	14.0	16.0	16.0		108,108	2.5	1.0	12	dbSNP_131	16	1644,6926		160,1324,2801	no	coding-synonymous,coding-synonymous	RASSF3	NM_001242691.1,NM_178169.3	,	257,1953,4262	GG,GA,AA		19.1832,18.8157,19.059	,	36/91,36/239	65004520	2467,10477	2187	4285	6472	SO:0001819	synonymous_variant	283349				CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.108A>G	12.37:g.65004520A>G			Q86WH1	Silent	SNP	ENST00000542104.1	37	CCDS8969.1																																																																																				0.726	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1		
RNF145	153830	mdanderson.org	37	5	158603804	158603804	+	Missense_Mutation	SNP	T	T	C	rs199990596	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr5:158603804T>C	ENST00000424310.2	-	5	816	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	RNF145_ENST00000520638.1_Missense_Mutation_p.M167V|RNF145_ENST00000274542.2_Missense_Mutation_p.M181V|RNF145_ENST00000521606.2_Missense_Mutation_p.M170V|RNF145_ENST00000518802.1_Missense_Mutation_p.M183V|RNF145_ENST00000519865.1_Missense_Mutation_p.M153V	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	153						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGGAAGCATGTGAGCTGAA	0.368																																						.											0													47.0	43.0	45.0					5																	158603804		2203	4299	6502	SO:0001583	missense	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.457A>G	5.37:g.158603804T>C	ENSP00000409064:p.Met153Val		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	8.027	0.760850	0.15914	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.76709	-1.04;-1.02;-1.02;-1.03;-1.03;-1.04;-1.03	5.46	5.46	0.80206	.	0.040310	0.85682	D	0.000000	T	0.51719	0.1691	N	0.02011	-0.69	0.49051	D	0.999745	B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.0;0.002	B;B;B;B;B;B	0.09377	0.003;0.003;0.003;0.004;0.003;0.002	T	0.52578	-0.8557	10	0.15952	T	0.53	-25.2343	12.9017	0.58128	0.0:0.0:0.1351:0.8649	.	169;170;167;183;153;181	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	V	181;153;153;169;170;183;153;167	ENSP00000274542:M181V;ENSP00000430397:M153V;ENSP00000409064:M153V;ENSP00000430753:M169V;ENSP00000445115:M170V;ENSP00000430955:M183V;ENSP00000429071:M167V	ENSP00000274542:M181V	M	-	1	0	RNF145	158536382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.709000	0.54853	2.200000	0.70718	0.377000	0.23210	ATG		0.368	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
CTSE	1510	bcgsc.ca	37	1	206327526	206327526	+	Missense_Mutation	SNP	T	T	C	rs145082936		TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr1:206327526T>C	ENST00000358184.2	+	6	833	c.715T>C	c.(715-717)Tcc>Ccc	p.S239P	CTSE_ENST00000360218.2_Missense_Mutation_p.S239P|CTSE_ENST00000432969.2_Missense_Mutation_p.S164P|CTSE_ENST00000361052.3_Missense_Mutation_p.S244P|CTSE_ENST00000468617.1_3'UTR	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTACGACCACTCCCATTTCTC	0.507													t|||	1	0.000199681	0.0008	0.0	5008	,	,		19855	0.0		0.0	False		,,,				2504	0.0					.											0								T	PRO/SER,PRO/SER	2,4404	4.2+/-10.8	0,2,2201	168.0	170.0	169.0		715,715	2.7	0.8	1	dbSNP_134	169	0,8600		0,0,4300	no	missense,missense	CTSE	NM_001910.3,NM_148964.2	74,74	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	239/397,239/364	206327526	2,13004	2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.715T>C	1.37:g.206327526T>C	ENSP00000350911:p.Ser239Pro		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	t	17.09	3.300038	0.60195	4.54E-4	0.0	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.60040	0.23;0.23;0.23;0.22	5.18	2.71	0.32032	.	0.084158	0.51477	D	0.000089	T	0.72471	0.3464	M	0.90542	3.125	0.31809	N	0.627447	D;D;D	0.69078	0.997;0.997;0.967	P;P;P	0.58013	0.831;0.808;0.567	T	0.77024	-0.2741	10	0.56958	D	0.05	.	8.4064	0.32616	0.1299:0.0:0.136:0.7341	.	164;239;239	B4DNU8;P14091-2;P14091-1	.;.;.	P	239;244;239;164	ENSP00000350911:S239P;ENSP00000354337:S244P;ENSP00000353350:S239P;ENSP00000394607:S164P	ENSP00000350911:S239P	S	+	1	0	CTSE	204494149	0.850000	0.29656	0.828000	0.32881	0.949000	0.60115	1.501000	0.35693	0.972000	0.38314	-0.313000	0.08912	TCC		0.507	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910	
PTEN	5728	bcgsc.ca	37	10	89711921	89711927	+	Frame_Shift_Del	DEL	TACCTGT	TACCTGT	-			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	TACCTGT	TACCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr10:89711921_89711927delTACCTGT	ENST00000371953.3	+	6	1896_1902	c.539_545delTACCTGT	c.(538-546)ttacctgtafs	p.LPV180fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	180	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.S179fs*3(1)|p.G165_*404del(1)|p.Y180*(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTATAGCTACCTGTTAAAGAATCAT	0.382		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												.	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	59	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Complex - frameshift(3)|Substitution - Nonsense(2)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(9)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CM043774|CM074469|HM971505	PTEN	M																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.539_545delTACCTGT	10.37:g.89711921_89711927delTACCTGT	ENSP00000361021:p.Leu180fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.382	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
FRG1B	284802	bcgsc.ca	37	20	29623215	29623215	+	Silent	SNP	G	G	A	rs77485836	byFrequency	TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chr20:29623215G>A	ENST00000278882.3	+	3	407	c.27G>A	c.(25-27)tcG>tcA	p.S9S	FRG1B_ENST00000439954.2_Missense_Mutation_p.D11N|FRG1B_ENST00000358464.4_Silent_p.S9S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	9										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACATGCACTCGACAATGGTCT	0.393													.|||	138	0.0275559	0.0106	0.0576	5008	,	,		49196	0.0238		0.0268	False		,,,				2504	0.0337					.											0																																										SO:0001819	synonymous_variant	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.27G>A	20.37:g.29623215G>A			C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	g	10.79	1.450717	0.26074	.	.	ENSG00000149531	ENST00000439954	T	0.63913	-0.07	1.93	1.93	0.25924	.	.	.	.	.	T	0.67135	0.2861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68945	-0.5275	6	0.54805	T	0.06	.	9.8943	0.41309	0.0:0.0:1.0:0.0	.	.	.	.	N	11	ENSP00000408863:D11N	ENSP00000408863:D11N	D	+	1	0	FRG1B	28236876	1.000000	0.71417	0.999000	0.59377	0.081000	0.17604	8.270000	0.89880	1.399000	0.46721	0.423000	0.28283	GAC		0.393	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
MT-ND5	4540	bcgsc.ca	37	M	13463	13463	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8345-01A-11D-2310-10	TCGA-KL-8345-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	e75d4ed6-f99b-480f-b14b-66803de8151d	ba203c68-18a0-47ab-953c-39e98349d141	g.chrM:13463G>A	ENST00000361567.2	+	1	1127	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	376					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCTCACCATTGGCAGCCTAGC	0.453																																						.											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1127G>A	M.37:g.13463G>A	ENSP00000354813:p.Gly376Asp		Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37																																																																																					0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036	
